-
1
-
-
10144246566
-
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
-
Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer NU, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD: Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145.
-
(1996)
Nat Genet
, vol.14
, pp. 141-145
-
-
Whitcomb, D.C.1
Gorry, M.C.2
Preston, R.A.3
Furey, W.4
Sossenheimer, N.U.5
Ulrich, C.D.6
Martin, S.P.7
Gates Jr., L.K.8
Amann, S.T.9
Toskes, P.P.10
Liddle, R.11
McGrath, K.12
Uomo, G.13
Post, J.C.14
Ehrlich, G.D.15
-
2
-
-
0030813082
-
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
-
Gorry MC, Gabbaizedeh D, Furey W, Gates LK Jr, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC: Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113:1063-1068.
-
(1997)
Gastroenterology
, vol.113
, pp. 1063-1068
-
-
Gorry, M.C.1
Gabbaizedeh, D.2
Furey, W.3
Gates Jr., L.K.4
Preston, R.A.5
Aston, C.E.6
Zhang, Y.7
Ulrich, C.8
Ehrlich, G.D.9
Whitcomb, D.C.10
-
3
-
-
0032993541
-
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
-
Witt H, Luck W, Becker M: A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999;117:7-10.
-
(1999)
Gastroenterology
, vol.117
, pp. 7-10
-
-
Witt, H.1
Luck, W.2
Becker, M.3
-
4
-
-
2442723724
-
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
-
Ferec C, Raguenes O, Salomon R, Roche C, Bernard JP, Guillot M, Quere I, Faure C, Mercier B, Audrezet MP, Guillausseau PJ, Dupont C, Munnich A, Bignon JD, Le Bodic L: Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J Med Genet 1999;36:228-232.
-
(1999)
J Med Genet
, vol.36
, pp. 228-232
-
-
Ferec, C.1
Raguenes, O.2
Salomon, R.3
Roche, C.4
Bernard, J.P.5
Guillot, M.6
Quere, I.7
Faure, C.8
Mercier, B.9
Audrezet, M.P.10
Guillausseau, P.J.11
Dupont, C.12
Munnich, A.13
Bignon, J.D.14
Le Bodic, L.15
-
5
-
-
0033866202
-
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation
-
Teich N, Ockenga J, Hoffmeister A, Manns M, Mossner J, Keim V: Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. Gastroenterology 2000;119:461-465.
-
(2000)
Gastroenterology
, vol.119
, pp. 461-465
-
-
Teich, N.1
Ockenga, J.2
Hoffmeister, A.3
Manns, M.4
Mossner, J.5
Keim, V.6
-
6
-
-
0034725697
-
Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis
-
Sahin-Toth M: Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis. J Biol Chem 2000;275:22750-22755.
-
(2000)
J Biol Chem
, vol.275
, pp. 22750-22755
-
-
Sahin-Toth, M.1
-
7
-
-
0034687560
-
Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen
-
Sahin-Toth M, Toth M: Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen. Biochem Biophys Res Commun 2000;278:286-289.
-
(2000)
Biochem Biophys Res Commun
, vol.278
, pp. 286-289
-
-
Sahin-Toth, M.1
Toth, M.2
-
8
-
-
0034111551
-
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
-
Chen JM, Mercier B, Audrezet MP, Ferec C: Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J Med Genet 2000;37:67-69.
-
(2000)
J Med Genet
, vol.37
, pp. 67-69
-
-
Chen, J.M.1
Mercier, B.2
Audrezet, M.P.3
Ferec, C.4
-
9
-
-
0034039578
-
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
-
Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M: Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-216.
-
(2000)
Nat Genet
, vol.25
, pp. 213-216
-
-
Witt, H.1
Luck, W.2
Hennies, H.C.3
Classen, M.4
Kage, A.5
Lass, U.6
Landt, O.7
Becker, M.8
-
10
-
-
0033857452
-
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
-
Pfützer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J, Furey WF, Whitcomb DC: SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-623.
-
(2000)
Gastroenterology
, vol.119
, pp. 615-623
-
-
Pfützer, R.H.1
Barmada, M.M.2
Brunskill, A.P.3
Finch, R.4
Hart, P.S.5
Neoptolemos, J.6
Furey, W.F.7
Whitcomb, D.C.8
-
11
-
-
0032480253
-
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
-
Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-652.
-
(1998)
N Engl J Med
, vol.339
, pp. 645-652
-
-
Sharer, N.1
Schwarz, M.2
Malone, G.3
Howarth, A.4
Painter, J.5
Super, M.6
Braganza, J.7
-
12
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS: Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339:653-658.
-
(1998)
N Engl J Med
, vol.339
, pp. 653-658
-
-
Cohn, J.A.1
Friedman, K.J.2
Noone, P.G.3
Knowles, M.R.4
Silverman, L.M.5
Jowell, P.S.6
-
13
-
-
0032988134
-
Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis
-
Nishimori I, Kamakura M, Fujikawa-Adachi K, Morita M, Onishi S, Yokoyama K, Makino I, Ishida H, Yamamoto M, Watanabe S, Ogawa M: Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis. Gut 1999;44:259-263.
-
(1999)
Gut
, vol.44
, pp. 259-263
-
-
Nishimori, I.1
Kamakura, M.2
Fujikawa-Adachi, K.3
Morita, M.4
Onishi, S.5
Yokoyama, K.6
Makino, I.7
Ishida, H.8
Yamamoto, M.9
Watanabe, S.10
Ogawa, M.11
-
14
-
-
0346329945
-
Familial pancreatitis
-
Japanese Ministry of Health and Welfare
-
Watanabe S, Otsuki M, Okazaki K, Kawaharada Y, Koizumi M, Tashiro M: Familial pancreatitis; in: Annual Report (1995) of the Working Group for Intractable Pancreatic Diseases (in Japanese). Japanese Ministry of Health and Welfare, 1996, pp 14-19.
-
(1996)
Annual Report (1995) of the Working Group for Intractable Pancreatic Diseases (in Japanese)
, pp. 14-19
-
-
Watanabe, S.1
Otsuki, M.2
Okazaki, K.3
Kawaharada, Y.4
Koizumi, M.5
Tashiro, M.6
-
15
-
-
0346329947
-
Survey of familial pancreatitis and juvenile pancreatitis and analysis of causative genes
-
Japanese Ministry of Health and Welfare
-
Otsuki M, Hayakawa T, Nishimori I, Shimosegawa T, Ogawa M: Survey of familial pancreatitis and juvenile pancreatitis and analysis of causative genes; in: Annual Report (1999) of the Working Group for Intractable Pancreatic Diseases (in Japanese). Japanese Ministry of Health and Welfare, 2000, pp 49-55.
-
(2000)
Annual Report (1999) of the Working Group for Intractable Pancreatic Diseases (in Japanese)
, pp. 49-55
-
-
Otsuki, M.1
Hayakawa, T.2
Nishimori, I.3
Shimosegawa, T.4
Ogawa, M.5
-
16
-
-
0346329944
-
The CFTR gene mutation in patients with cystic fibrosis in Japan
-
Japanese Ministry of Health and Welfare
-
Nishimori I, Eto Y, Yoshimura K, Tashiro M, Yamashiro Y, Ogawa M: The CFTR gene mutation in patients with cystic fibrosis in Japan; in: Annual Report (1999) of the Working Group for Intractable Pancreatic Diseases (in Japanese). Japanese Ministry of Health and Welfare, 2000, pp 69-73.
-
(2000)
Annual Report (1999) of the Working Group for Intractable Pancreatic Diseases (in Japanese)
, pp. 69-73
-
-
Nishimori, I.1
Eto, Y.2
Yoshimura, K.3
Tashiro, M.4
Yamashiro, Y.5
Ogawa, M.6
-
17
-
-
0032946162
-
Three generations of hereditary chronic pancreatitis
-
Hoshina K, Kimura W, Ishiguro T, Tominaga O, Futakawa N, Bin Z, Muto T, Makuuchi M: Three generations of hereditary chronic pancreatitis. Hepatogastroenterology 1999;46:1192-1198.
-
(1999)
Hepatogastroenterology
, vol.46
, pp. 1192-1198
-
-
Hoshina, K.1
Kimura, W.2
Ishiguro, T.3
Tominaga, O.4
Futakawa, N.5
Bin, Z.6
Muto, T.7
Makuuchi, M.8
-
18
-
-
0000923352
-
Hereditary pancreatitis: Description of a fifth kindred and summary of clinical features
-
Gross JB, Gambill EE, Ulrich JA: Hereditary pancreatitis: Description of a fifth kindred and summary of clinical features. Am J Med 1962;33:358-364.
-
(1962)
Am J Med
, vol.33
, pp. 358-364
-
-
Gross, J.B.1
Gambill, E.E.2
Ulrich, J.A.3
-
19
-
-
0348220703
-
Cationic trypsinogen gene mutation analysis in Japanese juvenile pancreatitis or idiopathic pancreatitis with family history
-
Nagasaki Y, Mizutamari H, Koizumi M, Shimosegawa T: Cationic trypsinogen gene mutation analysis in Japanese juvenile pancreatitis or idiopathic pancreatitis with family history. Int J Pancreatol 2000;28:138-139.
-
(2000)
Int J Pancreatol
, vol.28
, pp. 138-139
-
-
Nagasaki, Y.1
Mizutamari, H.2
Koizumi, M.3
Shimosegawa, T.4
-
20
-
-
0031929488
-
Severe cystic fibrosis associated with a ΔF508/R347H+D979a compound heterozygous genotype
-
Hojo S, Fujita J, Miyawaki H, Obayashi Y, Takahara J, Bartholomew DW: Severe cystic fibrosis associated with a ΔF508/R347H+D979A compound heterozygous genotype. Clin Genet 1998;53:50-53.
-
(1998)
Clin Genet
, vol.53
, pp. 50-53
-
-
Hojo, S.1
Fujita, J.2
Miyawaki, H.3
Obayashi, Y.4
Takahara, J.5
Bartholomew, D.W.6
-
21
-
-
0033110385
-
Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis
-
Seki K, Abo W, Yamamoto Y, Matsuura A: Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis. Tohoku J Exp Med 1999;187:323-328.
-
(1999)
Tohoku J Exp Med
, vol.187
, pp. 323-328
-
-
Seki, K.1
Abo, W.2
Yamamoto, Y.3
Matsuura, A.4
-
22
-
-
0032847034
-
A Japanese patient homozygous for the H108SR mutation in the CFTR gene presents with a severe form of cystic fibrosis
-
Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y: A Japanese patient homozygous for the H108SR mutation in the CFTR gene presents with a severe form of cystic fibrosis. Clin Genet 1999;56:173-175.
-
(1999)
Clin Genet
, vol.56
, pp. 173-175
-
-
Yoshimura, K.1
Wakazono, Y.2
Iizuka, S.3
Morokawa, N.4
Tada, H.5
Eto, Y.6
-
23
-
-
0034183312
-
Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540dello
-
Morokawa N, Iizuka S, Tanano A, Katsube A, Muraji T, Eto Y, Yoshimura K: Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540dello. Hum Mutat 2000;15:485.
-
(2000)
Hum Mutat
, vol.15
, pp. 485
-
-
Morokawa, N.1
Iizuka, S.2
Tanano, A.3
Katsube, A.4
Muraji, T.5
Eto, Y.6
Yoshimura, K.7
-
24
-
-
85017832913
-
Genetic mutation in exon 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis
-
in press
-
Kuwata K, Hirota M, Sugita H, Kai M, Hayashi N, Nakamura M, Matsuura T, Adachi N, Nishimori I, Ogawa M: Genetic mutation in exon 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis. J Gastroenterol, in press.
-
J Gastroenterol
-
-
Kuwata, K.1
Hirota, M.2
Sugita, H.3
Kai, M.4
Hayashi, N.5
Nakamura, M.6
Matsuura, T.7
Adachi, N.8
Nishimori, I.9
Ogawa, M.10
-
25
-
-
0348220702
-
Gene analysis of CFTR in Japanese patients with chronic pancreatitis
-
Aoyagi H, Okada T, Shiono Y, Suzuki A, Mabuchi H: Gene analysis of CFTR in Japanese patients with chronic pancreatitis. Int J Pancreatol 2000;28:103.
-
(2000)
Int J Pancreatol
, vol.28
, pp. 103
-
-
Aoyagi, H.1
Okada, T.2
Shiono, Y.3
Suzuki, A.4
Mabuchi, H.5
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